• Gene id: 55790

Gene Summary

• Gene Symbol: CSGALNACT1   Gene   UCSC   Ensembl
• Aliases: CSGalNAcT-1, ChGn, ChGn-1, SDJLABA, beta4GalNAcT
• Gene name: chondroitin sulfate N-acetylgalactosaminyltransferase 1
• Alternate names: chondroitin sulfate N-acetylgalactosaminyltransferase 1, beta4GalNAcT-1, chondroitin beta-1,4-N-acetylgalactosaminyltransferase 1, chondroitin beta1,4 N-acetylgalactosaminyltransferase, glucuronylgalactosylproteoglycan 4-beta-N- acetylgalactosaminyltransferas,
• Gene location: 8p21.3 (19758028: 19404160)     Exons: 34     NC_000008.11
• Gene summary(Entrez): This gene encodes an enzyme that transfers N-acetylglucosamine (GalNAc) to the core tetrasaccharide linker and to elongating chondroitin sulfate chains in proteoglycans. Knockout of the orthologous mouse gene indicates that the protein is necessary for no
• OMIM: 616615

Protein Summary

• Protein general information: Q8TDX6  
  • Name: Chondroitin sulfate N acetylgalactosaminyltransferase 1 (CsGalNAcT 1) (EC 2.4.1.174) (Chondroitin beta 1,4 N acetylgalactosaminyltransferase 1) (Beta4GalNAcT 1)
  • Length: 532  
  • Mass: 61294
  • Tissue specificity: Ubiquitous, with the highest levels in placenta, thyroid, bladder, prostate and adrenal gland. Detected at low levels in the other tissues examined. {ECO
• Sequence:

  MMMVRRGLLAWISRVVVLLVLLCCAISVLYMLACTPKGDEEQLALPRANSPTGKEGYQAVLQEWEEQHRNYVSSL
  KRQIAQLKEELQERSEQLRNGQYQASDAAGLGLDRSPPEKTQADLLAFLHSQVDKAEVNAGVKLATEYAAVPFDS
  FTLQKVYQLETGLTRHPEEKPVRKDKRDELVEAIESALETLNSPAENSPNHRPYTASDFIEGIYRTERDKGTLYE
  LTFKGDHKHEFKRLILFRPFGPIMKVKNEKLNMANTLINVIVPLAKRVDKFRQFMQNFREMCIEQDGRVHLTVVY
  FGKEEINEVKGILENTSKAANFRNFTFIQLNGEFSRGKGLDVGARFWKGSNVLLFFCDVDIYFTSEFLNTCRLNT
  QPGKKVFYPVLFSQYNPGIIYGHHDAVPPLEQQLVIKKETGFWRDFGFGMTCQYRSDFINIGGFDLDIKGWGGED
  VHLYRKYLHSNLIVVRTPVRGLFHLWHEKRCMDELTPEQYKMCMQSKAMNEASHGQLGMLVFRHEIEAHLRKQKQ
  KTSSKKT

• Structural information:
  • Interpro: IPR008428  IPR029044  
  • STRING: ENSP00000411816
• Other Databases: GeneCards:  CSGALNACT1  Malacards:  CSGALNACT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0047237	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity	IDA	molecular function
GO:0046398	UDP-glucuronate metabolic process	IDA	biological process
GO:0030206	chondroitin sulfate biosynthetic process	IDA	biological process
GO:0030206	chondroitin sulfate biosynthetic process	IDA	biological process
GO:0047238	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity	IDA	molecular function
GO:0019276	UDP-N-acetylgalactosamine metabolic process	IDA	biological process
GO:0008955	peptidoglycan glycosyltransferase activity	IDA	molecular function
GO:0008376	acetylgalactosaminyltransferase activity	IDA	molecular function
GO:0050653	chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	IDA	biological process
GO:0015020	glucuronosyltransferase activity	IDA	molecular function
GO:0030210	heparin biosynthetic process	NAS	biological process
GO:0030166	proteoglycan biosynthetic process	ISS	biological process
GO:0050651	dermatan sulfate proteoglycan biosynthetic process	ISS	biological process
GO:0046872	metal ion binding	NAS	molecular function
GO:0030173	integral component of Golgi membrane	NAS	cellular component
GO:0015014	heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	NAS	biological process
GO:0008376	acetylgalactosaminyltransferase activity	ISS	molecular function
GO:0050650	chondroitin sulfate proteoglycan biosynthetic process	ISS	biological process
GO:0008376	acetylgalactosaminyltransferase activity	IEA	molecular function
GO:0032580	Golgi cisterna membrane	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0047237	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity	IEA	molecular function
GO:0030206	chondroitin sulfate biosynthetic process	TAS	biological process
GO:0000139	Golgi membrane	TAS	cellular component
GO:0030198	extracellular matrix organization	IEA	biological process
GO:0051216	cartilage development	IEA	biological process
GO:0030204	chondroitin sulfate metabolic process	IEA	biological process
GO:0001958	endochondral ossification	IEA	biological process
GO:0032580	Golgi cisterna membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00532	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq